Variant position: 111 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 147 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human VEIDTKSYWKALGISPFHEH AEVVFTANDSGPRRYTIAALL
Chimpanzee VEIDTKSYWKALGISPFHEH AEVVFTANDSGPRRYTIAALL
Mouse VELDTKSYWKTLGISPFHEF ADVVFTANDSGHRHYTIAALL
Rat VELDTKSYWKALGISPFHEY AEVVFTANDSGHRHYTIAALL
Pig VELDTKSYWKALGISPFHEY AEVVFTANDSGRRHYTIAALL
Bovine VELDTKSYWKSLGISPFHEF AEVVFTANDSGPRHYTIAALL
Rabbit VELDTKSYWKALGISPFHEY AEVVFTANDSGHRSYTIAALL
Sheep VELDTKSYWKSLGISPFHEY AEVVFTANDSGLRHYTIAALL
Chicken VEFDTSSYWKGLGLSPFHEY ADVVFTANDSGHRHYTIAALL
Xenopus laevis IEFATKAFWGKLGLSPFHEY VDVVFTANDAGHRHYTIAVLL
Xenopus tropicalis IEFATKTFWRKLGLSPFHEY VDVVFSANDAGHRHYTIAVLL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
21 – 147 Transthyretin
118 – 118 N-linked (GlcNAc...) asparagine
107 – 107 F -> M. Loss of tetramerization; when associated with M-130.
130 – 130 L -> M. Loss of tetramerization; when associated with M-107.
107 – 118
New transthyretin variants Ser 91 and Ser 116 associated with familial amyloidotic polyneuropathy.
Misrahi A.M.; Plante V.; Lalu T.; Serre I.; Adams D.; Lacroix D.C.; Said G.;
Hum. Mutat. 12:71-71(1998)
Cited for: VARIANTS AMYL-TTR SER-111 AND SER-136;
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